Canonical Allele Identifier: CA9043623
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 664322
ClinVar RCV Id: RCV000822400 RCV001830817
dbSNP Id: rs202199674
ExAC: 19:1398976 T / G
gnomAD v2: 19-1398976-T-G
gnomAD v3: 19-1398977-T-G
gnomAD v4: 19-1398977-T-G
MyVariant Identifiers: chr19:g.1398976T>G (hg19) chr19:g.1398977T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398977T>G , CM000681.2:g.1398977T>G GRCh38
NC_000019.9:g.1398976T>G , CM000681.1:g.1398976T>G GRCh37
NC_000019.8:g.1349976T>G NCBI36
NG_009785.1:g.7577A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.509A>C MANE Select ENSP00000252288.1:p.Asn170Thr
ENST00000447102.8:c.509A>C ENSP00000403536.2:p.Asn170Thr
ENST00000591788.3:c.192A>C
ENST00000640164.1:n.342A>C
ENST00000640762.1:c.440A>C ENSP00000492031.1:p.Asn147Thr
ENST00000252288.6:c.509A>C ENSP00000252288.1:p.Asn170Thr
ENST00000447102.7:c.509A>C ENSP00000403536.2:p.Asn170Thr
ENST00000591788.2:c.194A>C ENSP00000466341.2:p.Asn65Thr
NM_000156.5:c.509A>C NP_000147.1:p.Asn170Thr
NM_138924.2:c.509A>C NP_620279.1:p.Asn170Thr
NM_000156.6:c.509A>C MANE Select NP_000147.1:p.Asn170Thr
NM_138924.3:c.509A>C NP_620279.1:p.Asn170Thr
Search 100 bp 5'
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